R25H (p.Arg25His) variant of LMNA (Prelamin-A/C)
R25H (p.Arg25His) in LMNA (Prelamin-A/C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Dilated cardiomyopathy 1A; Charcot-Marie-Tooth disease type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
R25H (p.Arg25His) variant details
- p.Arg25His
- rs61578124
- ClinGen CA342807260
- ClinVar RCV003582949
- Likely pathogenic
- Dilated cardiomyopathy 1A; Charcot-Marie-Tooth disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- REVEL 0.82
- ESM-1b 1.00
- AlphaMissense 0.92
- CADD 32.00
- PolyPhen-2 0.58
- SIFT 0.03
- ClinVar: Likely pathogenic (Dilated cardiomyopathy 1A; Charcot-Marie-Tooth disease type 2)
- EBI: Likely pathogenic (in EDMD2)
- UniProt: Likely pathogenic (in EDMD2)
- Population evidence available
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)